المؤلفون: Nanette B. Silverberg

المصدر: Clinics in Dermatology. 38:462-466

مصطلحات موضوعية: Neurofibromatosis 1, Single-Gene Defects, Administration, Topical, Dermatology, Disease, Computational biology, Biology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Gene, Exome sequencing, Gene Editing, 030203 arthritis & rheumatology, Ectodermal Dysplasia 1, Anhidrotic, Anticholesteremic Agents, Genodermatosis, Skin Diseases, Genetic, medicine.disease, Compendium, Ustekinumab, Human genome, Epidermolysis Bullosa, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e25387c277913e9624902e5dc553d2eTest
https://doi.org/10.1016/j.clindermatol.2020.03.006Test

المؤلفون: Neda Mokhberian, Ziba Morovvati, Simindokht Salavitabar, Marzieh Rahbaran, Maryam Hassani Doabsari, Saeid Morovvati

المصدر: Cellular & Molecular Biology Letters, Vol 24, Iss 1, Pp 1-8 (2019)
Cellular & Molecular Biology Letters

مصطلحات موضوعية: 0301 basic medicine, Male, Dysplasia, Biochemistry, Gene, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Research Letter, Humans, Hypohidrotic ectodermal dysplasia, lcsh:QH573-671, Child, Frameshift Mutation, Molecular Biology, Sanger sequencing, Genetics, EDARADD, Ectodermal Dysplasia 1, Anhidrotic, business.industry, lcsh:Cytology, Cell Biology, Ectodermal, Ectodysplasins, medicine.disease, Pedigree, Hypohidrotic, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), symbols, Ectodysplasin A, Female, business, EDA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23157d9bb2c322881c968071a3be73d8Test
http://link.springer.com/article/10.1186/s11658-019-0174-9Test

المؤلفون: Anina Bauer, Martina Dettwiler, Tosso Leeb, S. Hadji Rasouliha, Monika Maria Welle

المصدر: Animal Genetics. 49:651-654

مصطلحات موضوعية: Male, 0301 basic medicine, X Chromosome, 040301 veterinary sciences, Dachshund, Breeding, Biology, Frameshift mutation, 0403 veterinary science, 03 medical and health sciences, symbols.namesake, Dogs, Genetics, medicine, Animals, Dog Diseases, Hypohidrotic ectodermal dysplasia, Frameshift Mutation, Gene, X chromosome, 2. Zero hunger, Sanger sequencing, Ectodermal Dysplasia 1, Anhidrotic, 04 agricultural and veterinary sciences, General Medicine, Ectodysplasins, medicine.disease, 030104 developmental biology, Codon, Nonsense, symbols, Female, Animal Science and Zoology, Ectodysplasin A, Candidate Gene Analysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2fdf1ef0afed742889dafb71da6853eTest
https://doi.org/10.1111/age.12729Test

المؤلفون: Xu Wang, Lingqiang Meng, Wenjing Chen, Qingqing Du, Zhiyu Zhang, Shuo Yuan, Dongru Yang, Jiabao Ren, Wenjing Shen, Jiuping Bai, Guozhong Zhang, Shushen Zheng, Hong Qu

المصدر: Medicine

مصطلحات موضوعية: Male, Ectodermal dysplasia, China, Mutant, Mutation, Missense, Observational Study, medicine.disease_cause, hypohidrotic ectodermal dysplasia, Polymerase Chain Reaction, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, tooth abnormalities, Missense mutation, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Hypohidrotic ectodermal dysplasia, Luciferases, Gene, Sanger sequencing, Mutation, Ectodermal Dysplasia 1, Anhidrotic, business.industry, missense mutation, General Medicine, Ectodysplasins, medicine.disease, Molecular biology, Pedigree, genomic DNA, 030220 oncology & carcinogenesis, Child, Preschool, ectodysplasin A, symbols, Female, business, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b42d9b4f87a35a6b0920a5a805b0ae7Test
http://europepmc.org/articles/PMC7220389Test

المؤلفون: María Teresa Martínez-Menchon, Guillermo Glover-López, E. Guillén-Navarro, María José Sánchez-Soler, María Barreda-Sánchez, Lidya Rodriguez-Peña, Maria del Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, Paloma Sánchez-Pedreño, Ana Teresa Serrano-Antón, J.F. Frias-Iniesta, Pablo Carbonell-Meseguer

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, lcsh:Medicine, Biology, Edar-Associated Death Domain Protein, Non-syndromic tooth agenesis, Young Adult, symbols.namesake, Ectodermal Dysplasia, Ectodermal derivative impairment, hypohidrotic ectodermal dysplasia, medicine, Humans, Pharmacology (medical), Hypohidrotic ectodermal dysplasia, Multiplex ligation-dependent probe amplification, Allele, Child, Gene, Genetics (clinical), Anodontia, Genetics, Sanger sequencing, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, Edar Receptor, Research, Hypodontia, lcsh:R, Infant, Newborn, Infant, Exons, General Medicine, Middle Aged, EDAR, medicine.disease, Introns, Human genetics, Wnt Proteins, WNT10A, Spain, Child, Preschool, symbols, Female, Ectodysplasin A, EDA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c243be7260d6602d520dfebd84b42ca9Test
https://doi.org/10.1186/s13023-019-1251-xTest

المؤلفون: Ebtesam M. Abdalla, Adrianna Mostowska, Agnieszka Gaczkowska, Karin Dowidar, Ghada Mohamed Elhady, Paweł P. Jagodziński

المصدر: Archives of Oral Biology. 68:21-28

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Genotype, DNA Mutational Analysis, Gene Expression, Biology, 03 medical and health sciences, medicine, Humans, Edar Receptor, Coding region, Hypohidrotic ectodermal dysplasia, Child, General Dentistry, Gene, Anodontia, MSX1 Transcription Factor, Genetics, Ectodermal Dysplasia 1, Anhidrotic, Cell Biology, General Medicine, Ectodysplasins, medicine.disease, Pedigree, Wnt Proteins, Phenotype, 030104 developmental biology, Otorhinolaryngology, Mutation, Egypt, Ectodysplasin A, PAX9 Transcription Factor, PAX9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c1d09f55904d7762779badc38ecb3e2Test
https://doi.org/10.1016/j.archoralbio.2016.03.015Test

المؤلفون: Renáta Bozó, Lajos Kemény, Beáta Szilvia Bolla, Katalin Burián, Edit Urbán, Gábor Tax, Kornélia Szabó, Lilla Erdei

المصدر: Acta Dermato-Venereologica, Vol 101, Iss 1, p adv00352 (2021)

مصطلحات موضوعية: Chemokine, medicine.medical_treatment, Human skin, hypohidrotic ectodermal dysplasia, TNFAIP3, 030207 dermatology & venereal diseases, 0302 clinical medicine, Piperidines, Ectodermal Dysplasia, ectodysplasin a, Severe atopic dermatitis, Medicine, skin and connective tissue diseases, Receptor, 0303 health sciences, tofacitinib, biology, atopic dermatitis, General Medicine, Atopic dermatitis, Ectodysplasins, Pedigree, 3. Good health, Cytokine, RL1-803, Mutation (genetic algorithm), medicine.symptom, medicine.medical_specialty, Inflammation, Dermatology, Dermatitis, Atopic, 03 medical and health sciences, Immune system, Humans, Hypohidrotic ectodermal dysplasia, Gene, 030304 developmental biology, Innate immune system, Ectodermal Dysplasia 1, Anhidrotic, Tofacitinib, 030306 microbiology, jak inhibitor, business.industry, medicine.disease, Pyrimidines, Mutation, biology.protein, Cancer research, Ectodysplasin A, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3cfd1269c27632460bc01986479296eTest
https://doi.org/10.2340/00015555-3693Test

المؤلفون: Stephan Söder, Holm Schneider, Sigrun Wohlfart, Asma Smahi

المصدر: American Journal of Medical Genetics Part A. 170:249-253

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Mutation, Missense, Ectoderm, Biology, Edar-Associated Death Domain Protein, Breast Diseases, 03 medical and health sciences, Genetics, medicine, Humans, Edar Receptor, Missense mutation, Ovarian Teratoma, Hypohidrotic ectodermal dysplasia, Gene, Genetics (clinical), Ovarian Neoplasms, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, NF-kappa B, Teratoma, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Female, Hair, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b44a6193de4fed2d5982785e6ed3d5Test
https://doi.org/10.1002/ajmg.a.37412Test

المؤلفون: Efraín Garrido-Guerrero, Adolfo René Méndez-Cruz, Glustein Pozo-Molina, María Isabel Mendoza-Ramos, Julia Reyes-Reali, Rafael Villalobos-Molina

المصدر: International Journal of Dermatology. 54:790-794

مصطلحات موضوعية: Male, Heterozygote, Population, Mutation, Missense, Dermatology, Biology, Exon, Keratoderma, Palmoplantar, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, education, Gene, Genetics, education.field_of_study, Ectodermal Dysplasia 1, Anhidrotic, Genetic disorder, Exons, Ectodysplasins, Toes, medicine.disease, Phenotype, Molecular biology, Pedigree, Transmembrane domain, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15c944560ed91550334cb057b2ce263fTest
https://doi.org/10.1111/ijd.12775Test

المؤلفون: Daniele Di Marino, Placido Bramanti, Fabrizio Rinaldi, Mattia Falconi, Stefano Gambardella, Cristina Bulli, Alessandro Desideri, Chiara Conte, Giuseppe Novelli

المصدر: Genetic Testing. 12:437-442

مصطلحات موضوعية: Models, Molecular, Silent mutation, Ectodermal dysplasia, media_common.quotation_subject, Static Electricity, Nonsense, Mutation, Missense, Biology, Models, Hydrophobic and Hydrophilic Interactions, Humans, Chromatography, High Pressure Liquid, Italy, Gene Deletion, Codon, Nonsense, Genetic Testing, Ectodysplasins, Alternative Splicing, Mutation, Hydrogen Bonding, Ectodermal Dysplasia 1, Anhidrotic, medicine, Missense mutation, Codon, Gene, Genetics (clinical), media_common, Genetics, Chromatography, Direct sequencing, Binding properties, Molecular, medicine.disease, Molecular biology, Settore MED/03 - Genetica Medica, Anhidrotic, High Pressure Liquid, Ectodermal Dysplasia 1, RNA splicing, Missense

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4767b6462819bbd46b503c9b77b9209dTest
https://doi.org/10.1089/gte.2008.0020Test